ABCA1 p.Val977Ile
| Predicted by SNAP2: | A: D (63%), C: N (53%), D: D (80%), E: D (75%), F: N (66%), G: D (80%), H: D (66%), I: N (82%), K: D (85%), L: N (66%), M: N (97%), N: D (75%), P: D (85%), Q: D (75%), R: D (85%), S: D (66%), T: D (63%), W: D (63%), Y: D (63%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
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[hide] Novel genes as primary triggers for polygenic hype... J Hypertens. 2012 Jan;30(1):81-6. Chauvet C, Menard A, Xiao C, Aguila B, Blain M, Roy J, Deng AY
Novel genes as primary triggers for polygenic hypertension.
J Hypertens. 2012 Jan;30(1):81-6., [PMID:22124177]
Abstract [show]
OBJECTIVES: The discovery of causative genes leading to hypertension in animal models can reveal new mechanistic insights into blood pressure (BP) regulations. Previously, we isolated segments that harbor BP quantitative trait loci (QTLs) on rat chromosome 10 as defined by congenic strains made from crosses of inbred hypertensive Dahl salt-sensitive (DSS) and normotensive Lewis rats. The aim of the current study was to identify hypertension-causing genes for each QTL. METHODS: Molecular analysis was performed. RESULTS: A systematic and comprehensive molecular analysis divulged particular genes that carry nonconserved mutations. Specifically, the proline rich 11 gene is likely responsible for C10QTL5. C10QTL1 is one of five genes, namely Benzodiazepine receptor associated protein 1, Loc689764, myotubularin related protein 4, protein phosphatase 1E, PP2C domain containing and ring finger protein 43. Loc100363423 with no known function is a candidate for C10QTL3. The ATP-binding cassette, subfamily A (ABC1), member 8a gene is probably responsible for C10QTL2. CONCLUSIONS: Primary genes initiating polygenic hypertension are those not known to be involved in BP modulation. Novel pathways towards BP homeostasis appear to underlie the functionality of C10QTL5, C10QTL1 and C10QTL3 and C10QTL2. Moreover, these genes may become innovative targets for the diagnosis and therapeutics of essential hypertension.
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No. Sentence Comment
125 85 Table 4 Mutation screening of genes in the C10QTL2-containing interval Gene Genomic start position Genomic end position # of exons Size of codons (bp) Mutation detected Lewis/DSS Exon # Change in amino acid (AA) Lewis/DSS Abca8a 763 414 829 442 38 4851 G2932A 21 Val977Ile G2958A No Abca9 843 881 904 948 38 4701 Abca6 911 661 978 942 38 4875 No Abca5 1 010 062 1 070 157 39 4929 No Genes are defined by the congenic strains (Supplement 30, http://links.lww.com/HJH/A137).
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ABCA1 p.Val977Ile 22124177:125:266
status: NEW